Familial Hypercholesterolaemia (FH) is a genetic disorder, which is characterized by high cholesterol levels in the blood - specifically very high low-density lipoprotein cholesterol (LDL-C) - and premature cardiovascular disease. It affects 1 in 500 people in the UK population and is associated with premature morbidity and mortality from coronary heart disease (CHD). Currently FH is under diagnosed. In a survey of Lipid Clinics carried in 2010 it was reported that 90% of cases go undetected, resulting in disability or death from coronary heart disease.
CHD is a major public health problem, in 2010-11, according to NHS programme budgeting data, NHS Manchester spent over £70 million on treatment of circulatory diseases. In addition, emergency admissions rates in Manchester for CHD and stroke are significantly higher than national rates. We know that by improving the management of FH a reduction of emergency admissions and readmission can be achieved, as well as an improvement to mortality rates.
The National Institute of Clinical Excellence (NICE) published guidance CG71 in 2008, recommending that early identification of FH, genetic testing and cascade screening could reduce FH associated mortality, this has not so far been implemented In Greater Manchester.
We need to test and diagnose our population young, so that potential cardiac events can be avoided.
By taking the steps recommended by NICE, which have now been made more affordable by increased access to comprehensive mutation analysis, it is estimated that over 500 lives could be saved in Greater Manchester over six years of project funding.
Summary of our work
In 2014 the Greater Manchester Association of Clinical Commissioning Groups (ACCG) gave approval for the scoping of potential solutions for the introduction of a system wide approach for FH testing across Greater Manchester. The Greater Manchester Academic Health Science Network (GM AHSN), in partnership with the local Clinical Commissioning Group partner (North Manchester CCG) and the GM Strategic Clinical Network is leading this work. This is part of a whole systems approach to vascular health.
We are also collaborating with key stakeholders, including the British Heart Foundation and Heart UK, as well as industry partners. We are currently writing a business plan, which will put forward the case for a comprehensive service for FH families.
Our work aims to ensure that genetic testing and cascade screening is implemented across Greater Manchester.
What do we expect to happen?
By doing this work, among other things, we expect;
- Improved identification of FH cases leading to increased or normalised lifespan for patients
- A reduction in premature deaths from cardiovascular and reduction in long-term morbidity and its associated costs.
- Improved pathways of care for FH patients with increased numbers identified and discharged
What are the next steps?
We will develop and manage a business case for the reconfiguration of FH services in Greater Manchester and ensure key stakeholders, including member organisations, are kept informed and engaged with the plans and given an opportunity to influence the planned activity.
How can I get involved?
The aim is to make FH cascade screening available to all lipid clinics in Greater Manchester and enrol the support of as many local health professionals as possible. We will utilise patient user groups, which include “expert patients” from lipid clinics.
Who can I speak to?
If you have any questions relating to this project you can speak with Sister Ruth Eatough (GM AHSN Project Manager, Cardiovascular Specialist Nurse) on 0161 6671084, Ruth.Eatough@gmahsn.org or contact the Cara Afzal, GM AHSN Programme Development Lead, by email: email@example.com or telephone: 0161 667 1084.
Heart UK, who are helping to support our work with FH, have made this video to show just how important it is to diagnose and treat the condition.
We will continue to work to make sure Familial Hypercholesterolemia (FH) is finally recognised and understood as the life threatening genetic disorder it is, and that everyone understands the opportunity we have to work together with a common understanding to early diagnose, treatment and prevention.
The sad fact remains that most people with FH don’t even know they have the condition. And when they die prematurely, it remains undiagnosed within their families. We have proven methods and the means to diagnose and treat those with FH. A properly resourced UK FH register will help facilitate greater uptake of cascade testing to help us find those people. This will save lives and money. It’s time to get serious about FH. Dr Alan Rees, Chairman of HEART UK
'Prevention is better than cure' no more so than for those people with the inherited lipid disorder familial hypercholesterolaemia (FH) Prof Gray, National Director for Heart Disease, NHS England (2014)
We held a stakeholder event in February 2016, inviting a range of clinicians, patients, industry and charity representatives to discuss our proposed models for improving the detection and treatment of FH in Greater Manchester.